K60N (p.Lys60Asn) variant of PAX8 (Paired box protein Pax-8)
K60N (p.Lys60Asn) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K60N (p.Lys60Asn) variant details
- p.Lys60Asn
- gnomAD 2-113227111-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 7.99
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available